Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium by Rastislav Sysák, Katarína Brennerová, Romana Krlín, Peter Štencl, Igor Rusňák, Mária Vargová

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Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report by Katarína Brennerová, Martina Škopková, Mária Ostrožlíková, Jana Šaligová, Juraj Staník, Vladimír Bzdúch, Daniela Gašperíková

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ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability by Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova

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<i>N</i>-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant by Rebeka Kodríková, Zuzana Pakanová, Maroš Krchňák, Mária Šedivá, Sergej Šesták, Filip Květoň, Gábor Beke, Anna Šalingová, Katarína Skalická, Katarína Brennerová, Emília Jančová, Peter Baráth, Ján Mucha, Marek Nemčovič

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